Variant (rsID / SNP)

rs116825611

rs116825611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN7A. Location: chromosome 2, position 167,298,015. Clinical significance in the table: Benign.

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Reference-table entries

SCN7ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:167298015
Cytoband: 2q24.3
HGVS: NM_002976.4(SCN7A):c.2048G>A (p.Arg683Gln)
Allele change: Silent

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.